Rare disease awareness fails to ease physician, patient burden

Patients with the Duchenne Muscular Dystrophy, one of thousands of rare diseases, checked off a possible-progress mark last week when Sarepta Therapeutics announced Phase IIb results of its experimental therapy eteplirsen “showed a continued stabilization of walking ability” among patients after 74 weeks in a six-minute walking test. The muscle-wasting condition is an X-linked disorder which affects 1 in 3,500 male births, according to the National Organization for Rare Disorders.

Based on recent regulatory action, it would seem the category is picking up: Just two months before FDA participated in a webinar hosted by CureDuchenne in which Robert Temple, director of the CDER's Office of Medical Policy, gave a rundown about the accelerated approval options. FDA approved nine NMEs for treatment of rare diseases in 2012 and chalked up an approval for hypercholesterolemia drug Kynamaro in January, while marking the 30th anniversary of Rare Disease Day in February.

Yet a survey by Shire shows that FDA's involvement and drug industry awareness efforts aren't making a dent in terms of care. The survey showed that providers feel unprepared and under-knowledgeable, while patients struggle with lagging diagnoses and providers aren't wholly sold on the treatments.

Among the findings: doctors are generally ill-prepared to diagnose rare diseases because they affect a diffuse and limited population. This makes sense in terms of odds -- a rare disease is a condition that affects fewer than 200,000 in the US. But the math alone is not the only reason doctors said they have difficulty identifying and helping rare disease patients. The survey found that 54% of the US doctors polled said they didn't have enough opportunities to network with other docs who specialize in the field, and even if they are able to connect with rare disease doctors, 92% said it was hard to coordinate care with other physicians handling the same case. They also threw some mud at professional organizations. Researchers wrote that physicians felt their associations “do not provide sufficient attention to rare diseases.” They also cited time issues as an added stress, with 28% of the polled docs in the US saying that they use “non-physician staff” such as counselors and nurses to handle patient education, and many complaining that it's tough to provide “needed care in the allotted appointment time” for patients with these hard-to-pin down diseases.

Patients and payers also got their say in the four-week survey of groups here and in the UK. The patient findings seemed pretty typical for caregivers and patients navigating chronic and in this case elusive conditions, including depression, anxiety, isolation and stress compounded by a drawn-out path to diagnosis. It takes an average of 7.6 years to get the right diagnosis in the US (it's around 5 in the UK). Researchers said patients typically visit at least four primary care doctors, four specialists and receive two to three misdiagnoses before pinning down the actual culprit.

Then there is cost. Patients in the US and UK both said they had trouble covering costs, with 37% of the polled American patients having to borrow money from friends or family (versus 21% in the UK). Additional financial impacts included a lower credit score (32% of polled US patients, 10% of polled UK patients) and having to seek out charity or public assistance (34% US, 18% UK).

Payers appeared put out by a number of factors, including the lack of a benchmark for what constitutes a standard of care for rare disease patients and the higher amount of care rare disease patients need. At the same time, there's hesitation about the treatments themselves. One US payer was quoted saying insurers are reluctant “to pay for certain treatments and tests for rare diseases they feel are not proven.”